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Rare disease study seeks to unlock secrets of LCAT deficiency

NCT ID NCT06217588

Knowledge-focused Sponsor: University of Pennsylvania Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is not testing a new treatment. Instead, it aims to collect health information from 40 people with LCAT deficiency, a rare genetic disorder that affects cholesterol and kidney function. Researchers will review medical records, perform blood and urine tests, and track how the disease progresses over time. The goal is to better understand the condition and find biomarkers that could help in future research.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 40 people

The number the study aims to enrol. It can still change while the study runs.

Started

Aug 2022

Expected to finish

Aug 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

The registry aims to include data on any patients diagnosed with LCAT deficiency. This includes both patients that have been diagnosed on the basis of genetic analysis and patients that in the opinion of their physician meet the clinical criteria for a diagnosis of LCAT deficiency.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: 1. Males or Females of any age 2. Subjects with: 1. a diagnosis of primary LCAT deficiency based on investigator assessment or laboratory results AND/OR 2. a genetically confirmed mutation in the LCAT gene who are homozygous or compound heterozygous for LCAT loss-of-function mutations 3. Subjects or their legal guardian must be able to comprehend and be willing to provide a signed institutional review board/ethics committee (IRB/EC) approved Informed Consent Form. A waiver of consent will be requested for deceased patients, as determined by local regulatory requirements. Exclusion Criteria: 1. Secondary causes of LCAT deficiency 2. Any other medical or psychological conditions that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data

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Conditions

The condition(s) this trial relates to.

cardiovascular disorder kidney disorder LCAT deficiency Lecithin Cholesterol Acyltransferase Deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Lcat deficiency

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States